Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_015178.3:c.394C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 618004.2.2 | Saudi Arabia | Global developmental delay; Unsteady gait; Esodeviation; Delayed speech and language development | Female | Yes | Yes | Sister of 618004.2.1 |
| 618004.2.3 | Saudi Arabia | Global developmental delay; Unsteady gait; Esodeviation; Delayed speech and language development | Female | Yes | Yes | Sister of 618004.2.1 |
| 618004.2.4 | Saudi Arabia | Male | Father of 618004.2.1 | |||
| 618004.2.5 | Saudi Arabia | Female | Mother of 618004.2.1 |